NM_000369.5(TSHR):c.545+3G>C AND Hypothyroidism due to TSH receptor mutations

Germline classification:: Pathogenic (1 submission)
Last evaluated:: May 1, 1998
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000006832.9

Allele description [Variation Report for NM_000369.5(TSHR):c.545+3G>C]

NM_000369.5(TSHR):c.545+3G>C

Gene:

TSHR:thyroid stimulating hormone receptor [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q31.1

Genomic location:

Preferred name:

NM_000369.5(TSHR):c.545+3G>C

HGVS:

NC_000014.9:g.81092611G>C
NG_009206.1:g.142087G>C
NM_000369.5:c.545+3G>CMANE SELECT
NM_001018036.3:c.545+3G>C
NM_001142626.3:c.545+3G>C
LRG_523t1:c.545+3G>C
LRG_523:g.142087G>C
NC_000014.8:g.81558955G>C
NM_000369.2:c.545+3G>C

Note:

NCBI staff reviewed the sequence information reported in PubMed 9589691 to determine the location of this allele on the current reference sequence.

Nucleotide change:

IVS6, G-C, +3

Links:

OMIM: 603372.0032; dbSNP: rs786205080

NCBI 1000 Genomes Browser:

rs786205080

Molecular consequence:

NM_000369.5:c.545+3G>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001018036.3:c.545+3G>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001142626.3:c.545+3G>C - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: Hypothyroidism due to TSH receptor mutations
Synonyms:: HYPOTHYROIDISM DUE TO UNRESPONSIVENESS TO THYROTROPIN; HYPOTHYROIDISM, CONGENITAL, DUE TO TSH RESISTANCE; HYPOTHYROIDISM, NONAUTOIMMUNE; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0010142; MedGen: C3493776; Orphanet: 90673; OMIM: 275200

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000027028	OMIM	no assertion criteria provided	Pathogenic (May 1, 1998)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000027028

OMIM

no assertion criteria provided

Pathogenic
(May 1, 1998)

germline

literature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Apparent congenital athyreosis contrasting with normal plasma thyroglobulin levels and associated with inactivating mutations in the thyrotropin receptor gene: are athyreosis and ectopic thyroid distinct entities?

Gagné N, Parma J, Deal C, Vassart G, Van Vliet G.

J Clin Endocrinol Metab. 1998 May;83(5):1771-5.

PubMed [citation]

PMID:: 9589691

Details of each submission

From OMIM, SCV000027028.6

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

For discussion of the splice site mutation in the TSHR gene (IVS6+3G-C) that was found in compound heterozygous state in a patient with severe congenital hypothyroidism (CHNG1; 275200) by Gagne et al. (1998), see 603372.0031.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jun 17, 2024

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